Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

55275

Name

VPS53

Synonymous

vacuolar protein sorting 53 homolog (S. cerevisiae);VPS53;vacuolar protein sorting 53 homolog (S. cerevisiae)

Definition

vacuolar protein sorting-associated protein 53 homolog

Position

17p13.3

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.13.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.177G>A; p.A59A; 17:699372-699372

 skinmalignant_melanomaSubstitution - coding silent

c.1931C>T; p.S644F; 17:532909-532909

 skinmalignant_melanomaSubstitution - Missense

c.1931C>T; p.S644F; 17:532909-532909

 skinmalignant_melanomaSubstitution - Missense

c.63C>T; p.P21P; 17:714647-714647

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.8A>G; p.E3G; 17:714702-714702

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.710C>T; p.S237L; 17:628122-628122

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1061A>G; p.N354S; 17:601865-601865

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.600G>T; p.K200N; 17:631550-631550

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.671A>C; p.K224T; 17:628161-628161

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.505delC; p.R169fs*7; 17:653307-653307

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.1858G>A; p.V620I; 17:537098-537098

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1858G>A; p.V620I; 17:537098-537098

 skinmalignant_melanomaSubstitution - Missense

c.1660G>C; p.E554Q; 17:553420-553420

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1660G>C; p.E554Q; 17:553420-553420

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.972C>A; p.N324K; 17:623590-623590

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1891C>T; p.R631C; 17:537065-537065

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6G>T; p.M2I; 17:714704-714704

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1429C>T; p.R477*; 17:562543-562543

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.562G>T; p.A188S; 17:631588-631588

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.228T>C; p.D76D; 17:697475-697475

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.46G>T; p.V16L; 17:714664-714664

 thyroidother; neoplasmSubstitution - Missense

c.492_493insG; p.I165fs*17; 17:653319-653320

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.163G>A; p.E55K; 17:710538-710538

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.163G>A; p.E55K; 17:710538-710538

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.223C>A; p.L75M; 17:697480-697480

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.583C>T; p.P195S; 17:631567-631567

 skinmalignant_melanomaSubstitution - Missense

c.1951A>C; p.T651P; 17:532889-532889

 breastcarcinomaSubstitution - Missense

c.292G>T; p.E98*; 17:655947-655947

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.292G>T; p.E98*; 17:655947-655947

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.910C>T; p.R304C; 17:623652-623652

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1914C>T; p.C638C; 17:537042-537042

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1629delA; p.K543fs*8; 17:553451-553451

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1072G>T; p.E358*; 17:601854-601854

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.116G>T; p.R39L; 17:710585-710585

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1939C>T; p.P647S; 17:532901-532901

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.496C>T; p.P166S; 17:653316-653316

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.191T>C; p.V64A; 17:699358-699358

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3G>A; p.M1I; 17:714707-714707

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1795G>A; p.V599M; 17:537161-537161

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.416G>A; p.R139Q; 17:653396-653396

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.994C>T; p.R332C; 17:623568-623568

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1068C>T; p.F356F; 17:601858-601858

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1210A>G; p.I404V; 17:586286-586286

 livercarcinomaSubstitution - Missense

c.1311C>T; p.A437A; 17:562661-562661

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.446T>C; p.L149P; 17:653366-653366

 ovaryother; neoplasmSubstitution - Missense

c.1309G>A; p.A437T; 17:562663-562663

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1870C>T; p.R624C; 17:537086-537086

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.887G>C; p.R296T; 17:627174-627174

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.264C>T; p.N88N; 17:697439-697439

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1622A>C; p.E541A; 17:553458-553458

 pancreascarcinomaSubstitution - Missense

c.1160C>T; p.P387L; 17:586336-586336

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1622A>C; p.E541A; 17:553458-553458

 pancreascarcinomaSubstitution - Missense

c.578C>T; p.A193V; 17:631572-631572

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.578C>T; p.A193V; 17:631572-631572

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.578C>T; p.A193V; 17:631572-631572

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.714G>A; p.E238E; 17:628118-628118

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.465C>T; p.V155V; 17:653347-653347

 kidneyother; neoplasmSubstitution - coding silent

c.1380T>C; p.S460S; 17:562592-562592

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.1437C>T; p.Y479Y; 17:562535-562535

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1110G>A; p.T370T; 17:601816-601816

 breastcarcinomaSubstitution - coding silent

c.1813C>T; p.Q605*; 17:537143-537143

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.948T>G; p.L316L; 17:623614-623614

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.658G>A; p.D220N; 17:628174-628174

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.757G>T; p.D253Y; 17:627304-627304

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.895C>A; p.L299I; 17:623667-623667

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.895C>A; p.L299I; 17:623667-623667

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.895C>A; p.L299I; 17:623667-623667

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.895C>A; p.L299I; 17:623667-623667

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.115C>T; p.R39*; 17:710586-710586

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.324C>T; p.H108H; 17:655915-655915

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.115C>T; p.R39*; 17:710586-710586

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.324C>T; p.H108H; 17:655915-655915

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.576A>T; p.E192D; 17:631574-631574

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1203C>T; p.Y401Y; 17:586293-586293

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.301C>T; p.R101C; 17:655938-655938

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.745-2A>G; p.?; 17:627318-627318

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.157C>T; p.P53S; 17:710544-710544

 skinmalignant_melanomaSubstitution - Missense

c.428G>A; p.G143E; 17:653384-653384

 skin; neckmalignant_melanomaSubstitution - Missense

c.1824C>T; p.Y608Y; 17:537132-537132

 breastcarcinomaSubstitution - coding silent

c.81C>T; p.I27I; 17:714629-714629

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.81C>T; p.I27I; 17:714629-714629

 thyroidother; neoplasmSubstitution - coding silent

c.1030-3C>T; p.?; 17:601899-601899

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1030-3C>T; p.?; 17:601899-601899

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.570_571insT; p.E191fs*1; 17:631579-631580

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1975A>G; p.I659V; 17:532865-532865

 central_nervous_system; brainstemglioma; oligoastrocytoma_Grade_IIISubstitution - Missense

c.288G>A; p.V96V; 17:655951-655951

 breastcarcinomaSubstitution - coding silent

c.171T>G; p.S57S; 17:699378-699378

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.589C>T; p.Q197*; 17:631561-631561

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1365A>G; p.Q455Q; 17:562607-562607

 thyroidcarcinomaSubstitution - coding silent

c.3G>C; p.M1I; 17:714707-714707

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.221G>A; p.R74K; 17:697482-697482

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.574G>A; p.E192K; 17:631576-631576

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1422G>A; p.K474K; 17:562550-562550

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.61C>T; p.P21S; 17:714649-714649

 thyroidcarcinomaSubstitution - Missense

c.116G>A; p.R39Q; 17:710585-710585

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1037T>G; p.L346R; 17:601889-601889

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1620A>C; p.L540L; 17:553460-553460

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1213G>A; p.E405K; 17:586283-586283

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1222G>T; p.D408Y; 17:586274-586274

 breastcarcinomaSubstitution - Missense

c.675G>C; p.Q225H; 17:628157-628157

 skinmalignant_melanomaSubstitution - Missense

c.274G>T; p.D92Y; 17:697429-697429

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1700+1G>A; p.?; 17:553379-553379

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.344C>A; p.T115N; 17:655895-655895

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.778G>C; p.A260P; 17:627283-627283

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.219-4C>T; p.?; 17:697488-697488

 pancreascarcinomaUnknown

c.1326C>T; p.C442C; 17:562646-562646

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1262A>G; p.D421G; 17:562710-562710

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1001C>T; p.S334F; 17:623561-623561

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.517G>A; p.E173K; 17:653295-653295

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.490G>A; p.G164R; 17:653322-653322

 breastcarcinomaSubstitution - Missense

c.456G>A; p.V152V; 17:653356-653356

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.5T>G; p.M2R; 17:714705-714705

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1227-9delT; p.?; 17:562754-562754

 livercarcinomaUnknown

c.498G>A; p.P166P; 17:653314-653314

 pancreascarcinomaSubstitution - coding silent

c.1631T>A; p.L544H; 17:553449-553449

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.745-7T>C; p.?; 17:627323-627323

 soft_tissue; striated_musclerhabdomyosarcoma; alveolarUnknown

c.498G>A; p.P166P; 17:653314-653314

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

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